Publications by authors named "Thorsten Marquardt"

90Publications

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).

Orphanet J Rare Dis 2020 Sep 22;15(1):258. Epub 2020 Sep 22.

Department of General Pediatrics, University Children's Hospital Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-020-01528-zDOI Listing
September 2020

Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine.

Mol Genet Metab Rep 2020 Sep 13;24:100620. Epub 2020 Jul 13.

Department of General Pediatrics, Metabolic Diseases, University Children's Hospital, Albert-Schweitzer-Campus 1, Münster, NRW DE 48149, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2020.100620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358454PMC
September 2020

Dermal osteomata as first symptom of Albright's hereditary osteodystrophy in a 10-month-old girl.

J Dtsch Dermatol Ges 2020 Jul 25;18(7):734-736. Epub 2020 Mar 25.

Department of Pediatrics, University Hospital Münster, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ddg.14067DOI Listing
July 2020

Reply: Not every excessive startle is hyperekplexia, the curious case of SOD1.

Brain 2020 02;143(2):e12

Department of General Paediatrics, University of Münster, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz416DOI Listing
February 2020

Unsuccessful intravenous D-mannose treatment in PMM2-CDG.

Orphanet J Rare Dis 2019 10 22;14(1):231. Epub 2019 Oct 22.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1213-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805611PMC
October 2019

Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants.

Acta Derm Venereol 2020 Jan 7;100(1):adv00002. Epub 2020 Jan 7.

Department of Dermatology, University Hospital of Münster, 48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3324DOI Listing
January 2020

Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD.

Mol Genet Metab Rep 2019 Sep 28;20:100491. Epub 2019 Jun 28.

University Hospital Muenster, Department of Pediatrics, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2019.100491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610240PMC
September 2019

Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.

Am J Med Genet A 2019 07 10;179(7):1371-1375. Epub 2019 May 10.

Department of Pediatrics, University Hospital of Muenster, Muenster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61190DOI Listing
July 2019

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.

Clin Chim Acta 2019 Jul 12;494:58-63. Epub 2019 Mar 12.

Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2019.03.1610DOI Listing
July 2019

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.

J Chromatogr B Analyt Technol Biomed Life Sci 2019 Feb 7;1106-1107:64-70. Epub 2019 Jan 7.

University Children's Hospital Münster, Albert Schweitzer-Campus 1, Gebäude A13, 48149 Münster, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jchromb.2019.01.004DOI Listing
February 2019

Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.

Nutrition 2019 04 22;60:122-128. Epub 2018 Oct 22.

University Hospital Muenster, Department of Pediatrics, Muenster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nut.2018.10.014DOI Listing
April 2019

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Transl Res 2018 09 10;199:62-76. Epub 2018 May 10.

Department of Neurology and Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.trsl.2018.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041963PMC
September 2018

Effect of a Sodium and Calcium DL--Hydroxybutyrate Salt in Healthy Adults.

J Nutr Metab 2018 12;2018:9812806. Epub 2018 Apr 12.

Department of Pediatrics, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2018/9812806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925188PMC
April 2018

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

A vital sugar code for ricin toxicity.

Cell Res 2017 Nov 19;27(11):1351-1364. Epub 2017 Sep 19.

IMBA, Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC - Vienna BioCenter Campus, Dr. Bohr-Gasse 3, 1030 Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/cr.2017.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674155PMC
November 2017

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

J Med Genet 2018 01 15;55(1):39-47. Epub 2017 Sep 15.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-104622DOI Listing
January 2018

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Genet Med 2018 Feb 27;20(2):259-268. Epub 2017 Jul 27.

Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.106DOI Listing
February 2018

Manganese-induced turnover of TMEM165.

Biochem J 2017 04 19;474(9):1481-1493. Epub 2017 Apr 19.

CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Université de Lille, Lille F-59000, France and the LIA GLYCOLAB4CDG France/ Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure")

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/BCJ20160910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595065PMC
April 2017

Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib.

Int Immunopharmacol 2017 Mar 23;44:216-225. Epub 2017 Jan 23.

Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.intimp.2017.01.020DOI Listing
March 2017

Quantification of muscle pathology in infantile Pompe disease.

Neuromuscul Disord 2017 Feb 3;27(2):141-152. Epub 2016 Nov 3.

Department of Child Neurology, Justus Liebig University, Gießen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.10.010DOI Listing
February 2017

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

Am J Med Genet A 2016 12 14;170(12):3319-3322. Epub 2016 Sep 14.

Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin, Albert-Schweitzer-Campus 1, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37950DOI Listing
December 2016

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Mol Genet Metab 2016 08 7;118(4):244-54. Epub 2016 Jun 7.

Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.06.004DOI Listing
August 2016

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

EBioMedicine 2016 Feb 22;4:170-5. Epub 2015 Dec 22.

Department of Pediatrics, University Hospital of Muenster, Albert-Schweitzer-Campus 1 Gebaeude A13, 48149 Muenster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ebiom.2015.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776073PMC
February 2016

Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease.

J Steroid Biochem Mol Biol 2017 05 3;169:54-60. Epub 2016 Mar 3.

Centrum für Laboratoriumsmedizin, University Hospital of Münster, Münster, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jsbmb.2016.02.030DOI Listing
May 2017

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

Mol Genet Metab 2016 Jan 14;117(1):19-26. Epub 2015 Nov 14.

Division of Neuropediatrics and Pediatric Metabolic Medicine, University Children's Hospital Heidelberg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.11.007DOI Listing
January 2016

It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.

Alcohol Alcohol 2016 Mar 1;51(2):148-53. Epub 2015 Sep 1.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/alcalc/agv099DOI Listing
March 2016

News on Clinical Details and Treatment in PGM1-CDG.

JIMD Rep 2016 25;26:77-84. Epub 2015 Aug 25.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580736PMC
May 2016

Niemann-Pick type C disease in a 13-year-old boy from Nepal: A genetically confirmed case.

Neurol India 2015 Jul-Aug;63(4):626-8

Department of Pediatrics, Division of Pediatric Neurology, Lady Hardinge Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.162104DOI Listing
August 2015

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Pediatr Nephrol 2016 08 9;31(8):1283-6. Epub 2015 May 9.

Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-015-3070-1DOI Listing
August 2016

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.

Pediatr Nephrol 2016 08 7;31(8):1281. Epub 2015 May 7.

Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-015-3071-0DOI Listing
August 2016

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Clin Biochem 2015 Jan 8;48(1-2):11-3. Epub 2014 Oct 8.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinbiochem.2014.09.022DOI Listing
January 2015

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Clin Chim Acta 2014 Sep 26;436:135-9. Epub 2014 May 26.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Münster, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2014.05.011DOI Listing
September 2014

Multiple phenotypes in phosphoglucomutase 1 deficiency.

N Engl J Med 2014 05;370(21):2051-2

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1403446DOI Listing
May 2014

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.

Liver Transpl 2014 Apr 25;20(4):464-72. Epub 2014 Feb 25.

Department of Pediatric Hepatology and Liver Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/lt.23830DOI Listing
April 2014

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

PLoS One 2013 30;8(12):e82879. Epub 2013 Dec 30.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany ; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany ; Institut für Humangenetik, Technische Universität München, Munich, Germany ; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany ; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, California, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0082879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875432PMC
September 2014

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.

JIMD Rep 2014 5;13:101-9. Epub 2013 Nov 5.

Department of General Pediatrics, Münster University Children's Hospital, Albert-Schweitzer Campus 1, Gbd. A1, D-48149, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2013_263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110336PMC
July 2014

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Eur J Hum Genet 2012 Sep 14;20(9):933-7. Epub 2012 Mar 14.

Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421121PMC
September 2012

Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.

Neonatology 2011 1;100(2):194-7. Epub 2011 Apr 1.

Department of Pediatrics, Klinikum Neukoelln, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000324116DOI Listing
January 2012

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

Mol Genet Metab 2009 Nov 24;98(3):305-9. Epub 2009 Jun 24.

Klinik für Kinder- und Jugendmedizin, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2009.06.010DOI Listing
November 2009

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Biochim Biophys Acta 2009 Sep 25;1792(9):915-20. Epub 2008 Dec 25.

University Hospital of Rostock, Department of Pediatrics, Rembrandtstrabetae 16/17, 18057 Rostock, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2008.12.005DOI Listing
September 2009

Kocuria rhizophila adds to the emerging spectrum of micrococcal species involved in human infections.

J Clin Microbiol 2008 Oct 9;46(10):3537-9. Epub 2008 Jul 9.

University Hospital of Münster, Institute of Medical Microbiology, Domagkstr. 10, 48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1128/JCM.00823-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2566074PMC
October 2008

Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.

Blood 2006 May 2;107(10):3959-66. Epub 2006 Feb 2.

Max Planck Institute of Molecular Biomedicine and Institute of Cell Biology, ZMBE, University of Münster, Von-Esmarch-Strasse 56, 48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2005-08-3334DOI Listing
May 2006

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Ann Neurol 2005 Jan;57(1):148-51

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20359DOI Listing
January 2005

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

Proc Natl Acad Sci U S A 2004 Nov 17;101(48):16849-54. Epub 2004 Nov 17.

Laboratory of Physiological Chemistry, Christian de Duve Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, B-1200 Brussels, Belgium.

View Article

Download full-text PDF

Source
http://www.pnas.org/cgi/doi/10.1073/pnas.0404840101
Publisher Site
http://dx.doi.org/10.1073/pnas.0404840101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC534725PMC
November 2004

A COG in the sugar machine.

Nat Med 2004 May;10(5):457-8

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nm0504-457DOI Listing
May 2004

White-colored vessels of iris and retina in an infant.

J Pediatr 2004 Mar;144(3):411

University Eye Hospital, University Pediatric Hospital, D-48129 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0022-3476(03)00383-4DOI Listing
March 2004

Cardiomyopathy in congenital disorders of glycosylation.

Cardiol Young 2003 Aug;13(4):345-51

Department of Pediatric Cardiology, Westfalische Wilhelms-Universitat Munster/Westf., Munster, Germany.

View Article

Download full-text PDF

Source
August 2003

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

Blood 2003 Dec 21;102(13):4576-81. Epub 2003 Aug 21.

Abteilung Innere Medizin III (Hematology/Oncology) der Universität Ulm, Robert Koch Str 8, D-89081 Ulm, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2003-02-0613DOI Listing
December 2003

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.

Eur J Pediatr 2003 Oct 2;162(10):710-3. Epub 2003 Aug 2.

Institute of Human Genetics, Charité Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-003-1278-8DOI Listing
October 2003

Kirner's deformity of all fingers in a 5-year-old girl: soft-tissue enhancement with normal bones on contrast-enhanced MRI.

Pediatr Radiol 2003 Oct 5;33(10):709-11. Epub 2003 Jul 5.

Department of Paediatrics, University of Magdeburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-003-0998-2DOI Listing
October 2003

Leukocyte adhesion deficiency II: therapy and genetic defect.

Cells Tissues Organs 2002 ;172(3):161-73

Institut für Zellbiologie, Zentrum für Molekularbiologie der Entzündung, Universität Münster, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000066968DOI Listing
January 2004

Membrane-permeant derivatives of mannose-1-phosphate.

Bioorg Med Chem 2002 Dec;10(12):4043-9

Institut für Organische Chemie, Universität Hamburg, Martin-Luther-King-Platz 6, Hamburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0968-0896(02)00269-9DOI Listing
December 2002

More on factitious diarrhea.

J Pediatr Gastroenterol Nutr 2002 Oct;35(4):584-5

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00005176-200210000-00026DOI Listing
October 2002

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia.

Eur J Pediatr 2002 Oct 22;161(10):524-7. Epub 2002 Aug 22.

Klinik und Poliklinik für Kinderheilkunde, Albert-Schweitzer-Strasse 33, 48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-002-1029-2DOI Listing
October 2002